Two Elderly Patients with Mineralocorticoid Excess Due to 11.BETA.-Hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment

Inada, Mitsuo; Iwasaki, Katsurô; Chihiro, Imai; Hashimoto, Shinichi

doi:10.2169/internalmedicine.47.0563

Cited by 4 publications

(7 citation statements)

References 15 publications

(19 reference statements)

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“…Recently, we reported 3 elderly patients with reduced circulating levels of aldosterone, despite the mineralocorticoid excess state (1,2). They responded to blockade of mineralocorticoid receptor, and, therefore, their abnormalities were similar to those seen in the syndrome of apparent mineralocorticoid excess (AME), caused by mutations of 11βhydroxysteroid dehydrogenase type 2 (11β-HSD2) gene (3,4).…”

Section: Introductionmentioning

confidence: 93%

Spironolactone Effective Hypertension in the Elderly Due to 11.BETA.-hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment: Contributory Role of Determining Serum Cortisol/Cortisone Ratio as a Marker of 11.BETA.-HSD2 Activity

et al. 2008

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Two elderly patients with mineralocorticoid excess state due to 11 beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) impairment are described. Moreover, the role of the precursor-product ratios of the steroids reflecting 11beta-HSD2 activity was estimated in 5 patients, including 3 patients reported previously by us. Significant elevations of urinary cortisol/cortisone ratios were observed, whereas urinary tetrahydrocortisol (THF)+allo-THF/tetrahydrocortisone (THE) ratios were not elevated significantly. Furthermore, an even more distinct elevation of serum cortisol/cortisone ratio was evident in all instances of 5 patients, suggesting a significant clinical role of the serum cortisol/cortisone ratio in the diagnosis of 11beta-HSD2 impairment.

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Section: Introductionmentioning

confidence: 93%

Spironolactone Effective Hypertension in the Elderly Due to 11.BETA.-hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment: Contributory Role of Determining Serum Cortisol/Cortisone Ratio as a Marker of 11.BETA.-HSD2 Activity

et al. 2008

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“…However, these patients do not appear cushingoid as an intact negative feedback system leads to systemic decreases in cortisol synthesis. Moreover, an increased urinary cortisol/cortisone ratio was noted in two patients with this syndrome [26], in reverse to what would be expected in MS.…”

Section: Evidence For Tissue-specific Hypercortisolismmentioning

confidence: 59%

Is metabolic syndrome a mild form of Cushing’s syndrome?

Krikorian

Khan

2010

Rev Endocr Metab Disord

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The Metabolic Syndrome is a diagnosis of increasing prevalence that is noted to share multiple clinical features with Cushing's syndrome. Several studies suggest abnormalities in the Hypothalamic-Pituitary-Adrenal axis to be associated with this disease and tissue-specific hypercortisolemia is being investigated as a possible contributing factor. More research is needed to explore the relation between cortisol and the metabolic syndrome which, if confirmed, will have major therapeutic and public health implications.

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“…Facing clinical and laboratorial featu-are p.R186C carriers. Since this mutation was previously described segregating in an African-American family (20), a founder effect should be considered. However, in the present case it is diffi cult to explain the mutation recurrence by considering a founder effect of an African-derived disease-causing allele without analyzing molecular markers, which could give an estimative of African ancestry index for this family as defi ned by Parra and cols.…”

Section: Discussionmentioning

confidence: 99%

“…In general, the disease is present in early childhood, with a severe phenotype including low birth weight, failure to thrive, hypokalemic metabolic alkalosis, and high mortality rate in untreated patients (2,16). However, milder phenotypes have been described in adults with clinical features such as hypertension without electrolyte abnormalities (17)(18)(19)(20). Milder phenotypes are associated with mutations causing only partial inactivation of HSD11B2 (21).…”

Section: Introductionmentioning

confidence: 99%

Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene

Coeli

Ferraz

Lemos-Marini

et al. 2008

Arq Bras Endocrinol Metab

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The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the defi ciency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of fi ve exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME. RESUMO Síndrome de Excesso Aparente de Mineralocorticóide em um Menino Brasileiro Causada pela Mutação p.R186C em Homozigose no Gene HSD11B2.A síndrome de excesso aparente de mineralocorticóide (AME) é uma doença autossômica recessiva rara devido à defi ciência da enzima 11β-hidroxiesteróide desidrogenase tipo 2 (11beta-HSD2). A enzima 11beta-HSD2 metaboliza o cortisol ativo a cortisona. As mutações no gene HSD11B2, que codifi ca a enzima, afetam sua atividade levando a um excesso de cortisol, que terá acesso inapropriado ao receptor de mineralocorticóide, competindo com a ligação da aldosterona. O gene HDS11B2 humano está localizado no cromossomo 16q22 e é formado por 5 éxons que codifi cam uma proteína de 405 aminoáci-dos. Este relato apresenta os estudos clínicos e moleculares de um paciente brasileiro do sexo masculino que nasceu prematuro depois de uma gestação sob oligodrâmnio. Recebeu o diagnóstico de AME com 26 meses de idade.

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Two Elderly Patients with Mineralocorticoid Excess Due to 11.BETA.-Hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment

Abstract: Abstract

Cited by 4 publications

References 15 publications

Spironolactone Effective Hypertension in the Elderly Due to 11.BETA.-hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment: Contributory Role of Determining Serum Cortisol/Cortisone Ratio as a Marker of 11.BETA.-HSD2 Activity

Spironolactone Effective Hypertension in the Elderly Due to 11.BETA.-hydroxysteroid Dehydrogenase Type 2 (11.BETA.-HSD2) Impairment: Contributory Role of Determining Serum Cortisol/Cortisone Ratio as a Marker of 11.BETA.-HSD2 Activity

Is metabolic syndrome a mild form of Cushing’s syndrome?

Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene

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